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Disease Name: Netherton syndrome

Genes Covered:

ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53
Test Details Pricing

Panel: Strand Dermatological Disorders Test

Disorder Category: Cornification disorders

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request